ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 40; N. variants: 21
Source: CURATED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		disease Disease or Syndrome 53 442 0.600 definitive 1.000 7 8 2000 2016
CUI: C3279690
Disease: MOYAMOYA DISEASE 5
MOYAMOYA DISEASE 5 		disease Disease or Syndrome 1 3 0.700 None 1.000 4 3 2007 2016
CUI: C3151201
Disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME 		disease Disease or Syndrome 2 1 0.780 None 1.000 3 1 2007 2019
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		disease Cardiovascular Diseases Disease or Syndrome 7 60 0.430 None 1.000 1 2007 2018
CUI: C0340630
Disease: Aortic Aneurysm, Thoracoabdominal
Aortic Aneurysm, Thoracoabdominal 		disease Cardiovascular Diseases Disease or Syndrome 7 0.300 None 1.000 1 2007 2007
CUI: C1876165
Disease: Copper-Overload Cirrhosis
Copper-Overload Cirrhosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 11 0.300 None 1.000 1 2012 2012
CUI: C0005398
Disease: Cholestasis, Extrahepatic
Cholestasis, Extrahepatic 		disease Digestive System Diseases Disease or Syndrome 32 0.300 None 1.000 1 2017 2017
CUI: C0019189
Disease: Hepatitis, Chronic
Hepatitis, Chronic 		disease Digestive System Diseases Disease or Syndrome 22 0.300 None 1.000 1 2012 2012
CUI: C0023895
Disease: Liver diseases
Liver diseases 		group Digestive System Diseases Disease or Syndrome 72 0.300 None 1.000 1 2001 2001
CUI: C0086565
Disease: Liver Dysfunction
Liver Dysfunction 		phenotype Digestive System Diseases Finding 72 0.300 None 1.000 1 2001 2001
CUI: C0149519
Disease: Chronic Persistent Hepatitis
Chronic Persistent Hepatitis 		disease Digestive System Diseases Disease or Syndrome 22 0.300 None 1.000 1 2012 2012
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis 		disease Digestive System Diseases Disease or Syndrome 22 0.300 None 1.000 1 2012 2012
CUI: C0524611
Disease: Cryptogenic Chronic Hepatitis
Cryptogenic Chronic Hepatitis 		disease Digestive System Diseases Disease or Syndrome 22 0.300 None 1.000 1 2012 2012
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 159 416 0.300 None 1.000 1 2004 2004
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 152 6 0.300 None 1.000 1 2004 2004
CUI: C0014175
Disease: Endometriosis
Endometriosis 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 161 80 0.310 None 1.000 1 2011 2019
CUI: C0269102
Disease: Endometrioma
Endometrioma 		disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 161 0.300 None 1.000 1 2011 2011
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 36 8 0.300 None 1.000 1 2010 2010
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 88 9 0.300 None 1.000 1 2010 2010
CUI: C0027719
Disease: Nephrosclerosis
Nephrosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 11 0.300 None 1.000 1 2019 2019
CUI: C0041956
Disease: Ureteral obstruction
Ureteral obstruction 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 24 0.300 None 1.000 1 2017 2017
CUI: C0086432
Disease: Hyalinosis, Segmental Glomerular
Hyalinosis, Segmental Glomerular 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 28 0.300 None 1.000 1 2010 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1074 1390 0.300 None 1.000 1 2014 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 538 763 0.300 None 1.000 1 2014 2014
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 525 0.300 None 1.000 1 2014 2014